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The New England Journal of Medicine, ISSN 0028-4793, 12/2015, Volume 373, Issue 24, pp. 2336 - 2346
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 10/2018, Volume 115, Issue 43, pp. E10109 - E10118
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2018, Volume 93, Issue 2, pp. 266 - 274
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 99 - 106
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL.... 
deafness | non‐syndromic hearing loss | PDZD7 | biallelic mutation | non-syndromic hearing loss | DIAGNOSIS | GENETICS & HEREDITY | PROTEIN COMPLEX | Deafness | Family | Genetic aspects | Hearing loss | Missense mutation | Next-generation sequencing | Etiology | Genes | Mutation | Hearing impairment | Siblings | Index Medicus | Original
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 08/2019, Volume 10, Issue 1, pp. 1 - 14
Somatic mutations in the RNase IIIb domain of DICER1 arise in cancer and disrupt the cleavage of 5' pre-miRNA arms. Here, we characterize an unstudied,... 
PATHWAYS | HOTSPOT MUTATIONS | MULTIDISCIPLINARY SCIENCES | ABSENCE | LET-7 | PROLIFERATION | MICRORNAS | DIFFERENTIATION | BIALLELIC LOSS | EXPRESSION | TUMORIGENESIS | Profiling | Hot spots | MiRNA | Ribonuclease B | Genomes | Ribonucleic acid--RNA | Domains | Uterus | Derepression | Evolution | Mutation | Catalysis | Endometrium | Cancer | Tumors | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 05/2018, Volume 115, Issue 20, pp. 5241 - 5246
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 592 - 601